The board-certified and fellowship-trained neurologists with Norton Children’s Neuroscience Institute, affiliated with the UofL School of Medicine, are the leading providers of care for children with spinal muscular atrophy (SMA) disease in Louisville, Kentucky, and Southern Indiana.
Norton Children’s Hospital is the pediatric teaching hospital for the University of Louisville School of Medicine. Our physicians are training the next generation of pediatric specialists.
We’ll determine the severity of your child’s SMA disease and create a treatment plan that minimizes risk, so your child can get back to being a kid.
Our multidisciplinary team, in partnership with the Muscular Dystrophy Association (MDA), sees patients in a single clinic for multiple specialties, including neurology, pulmonology, orthopedics, physical therapy, occupational therapy and speech therapy.
What Is Spinal Muscular Atrophy?
SMA is a genetic disease that affects the part of the nervous system responsible for carrying signals from the spinal cord to muscles. As a result, the muscles are weak and shrink (atrophy). SMA disease affects muscles that control movement of the arms and legs, as well as breathing and posture.
There are different types of SMA disease, each with a different level of severity. Children with more severe forms typically start to show weakness when they are babies. Children with other forms may not have symptoms until their teen years or into adulthood.
How Is Spinal Muscular Atrophy Diagnosed?
A neurological exam can diagnose SMA disease. Our team may perform magnetic resonance imaging (MRI) of the brain or spinal cord to evaluate your child for other causes of weakness. The team may confirm a diagnosis through genetic testing (blood test). Our orthopedic team also will monitor bone health. Children with SMA disease are at increased risk for scoliosis.
Spinal Muscular Atrophy Treatment
New treatments can stop the progression of SMA disease and potentially reverse some symptoms. Currently, three Food and Drug Administration-approved SMA disease-modifying medications are available: nusinersen (Spinraza), onasemnogene abeparvovec-xioi (Zolgensma) and risdiplam (Evrysdi). These therapies have been shown to work better if they are started earlier and work best if given to children before they have symptoms.
SMA disease can cause weakness in the muscles that aid in breathing, requiring the child to need assistance with breathing and coughing. Our team may prescribe noninvasive breathing devices, such as a CPAP (continuous positive airway pressure) or BiPAP (bilevel positive airway pressure) device. Additional support may include placement of a tracheostomy (an opening in the neck for placement of a breathing tube) and use of a ventilator.